Living with Thalassemia

Health Advice

Article by: Consultant Dietitian Ooi Shi Min

Thalassemia, also known as Mediterranean anemia or Cooley’s Anemia, is a genetic blood disorder. It occurs when the body underproduces or fails to produce one or more α- and β-globin chains that form a hemoglobin molecule, the oxygen-carrying component in red blood cells. With less hemoglobin available, the body forms fewer red blood cells, leading to insufficient oxygen transport and resulting in anemia[1,2] 

Since it is a paediatric inherited disease caused by genetic disorder, thalassemia is passed from a parent to their child, or at least one of the parents has to be the carrier of thalassemia. Thalassemia occurs more often among certain ethnicities, including people of Italian, Greek, Middle Eastern, Asian, and African descent. [2,3] 

There are two major types of thalassemia: [1,3,4] 

i. Alpha

A total of four genes, two from each parent, will be inherited to control the production of haemoglobin alpha chain. When one or more of the genes fail to work properly or are missing, alpha thalassemia occurs and its severity depends on the number of defective genes:

a) Silent Carrier
Only one gene is defected, no anaemia symptoms and the patient still can lead a normal and healthy life. 

b) Alpha Thalassemia Minor
Due to missing of two genes, the red blood cells become smaller. Patient might experience mild anaemia. 

c) Haemoglobin H Disease
The loss of three normal genes causes insufficient oxygen to be carried properly, patient can suffer from moderate or severe anaemia. 

d) Alpha Thalassemia Major (Hydrops fetalis with Haemoglobin Barts)
With all four genes failing to produce the alpha chain, the significant loss of haemoglobin causes severe form of anaemia in patient.

ii. Beta

Only two genes, one from each parent, are required to make haemoglobin beta chain. The severity of beta thalassemia is determined by whether one or both genes fail to function properly. 

a) Beta Thalassemia Minor
Only one gene is defective, patient has smaller red blood cells, without major health problems.

b) Beta Thalassemia Major (Cooley’s anaemia)
With both defective genes, the body produces little to no beta chain, results in severe anaemia.  

How does Thalassemia affect my body? 

Since the body produces insufficient red blood cells when you have thalassemia, you may have low blood count, or anaemia. The symptoms of thalassaemia can vary, and some people have no visible symptoms, while others develop symptoms later in adolescence. Some of the most common symptoms include: [5,6]

  • Fatigue
  • Weakness
  • Headache
  • Dizziness
  • Rapid / irregular heartbeat 
  • Shortness of breath
  • Pale or yellowish skin
  • Bone deformities, especially facial features
  • Delayed growth and development
  • Difficulty concentrating
  • Dark urine

How to know if I inherit / carry Thalassemia? 

You may seek for a thalassemia screening or haemoglobin electrophoresis which can identify a carrier of thalassemia if you:

  1. Have a family history of thalassaemia
  2. Have abnormal complete blood count (CBC) or iron profile in blood test report
  3. Experience symptoms of anaemia

Children born with thalassemia major usually develop the symptoms of severe anemia within the first year of life. Because of their inability to produce normal hemoglobin, the child is chronically fatigued, fails to thrive, and does not grow normally. Therefore, it is crucial to identify yourself as a possible carrier of thalassemia (thalassemia minor). If you are a carrier and your partner also has thalassemia minor, there is a 25% chance of having a baby with thalassemia major. [7,8] 

What are the treatments for Thalassemia?

Treatment for thalassemia depend on the type and severity of the disorder. People with thalassaemia minor may have mild or no symptoms, hence they do not require any medical treatment. On the other hand, the standard treatments for patients with thalassemia major are:

i. Blood transfusion [1,7]
Regular blood transfusions allow patients with thalassemia to grow normally and be active. Nevertheless, transfusions might cause deadly accumulation of iron in the heart and liver. If the excess iron is not eliminated from body then the patients may suffer from a premature death due to iron overload.  

ii. Iron chelation therapy [1,3]
To prevent iron overload as the outcome of blood transfusion, patients who receive frequent transfusions also require iron chelation therapy, which can be given in pill form or a shot under the skin to remove excess iron before it builds up in the organs.  

iii. Bone Marrow / Stem Cell Transplant [1,5]
A bone marrow/stem cell transplant replaces the damaged stem cells with the healthy stem cells from a compatible donor. At present, this is the only most effective treatment that can cure thalassaemia and eliminate the need for lifelong blood transfusions. 

iv. Gene Therapy [5]
Thalassemia gene therapy is currently undergoing clinical trials and it aims to achieve a stable introduction of normal haemoglobin gene into the stem cells in the bone marrow. This will allow people who have thalassaemia to make their own healthy red blood cells and haemoglobin.

Diet in Thalassemia

Folic acid supplements are usually prescribed for patients with thalassemia to treat anaemia. It is also the key nutrient to making healthy blood cells. [3] Furthermore, patients with thalassemia who undergo chelation therapy might experience vitamin C deficiency due to increased catabolism. Thus, it is encouraged to consume food rich in vitamin C as it also acts as an adjuvant to iron chelators.

However, large doses of vitamin C supplementation should be avoided to prevent toxicity that might lead to cardiac dysfunction. [1,9] Besides, vitamin E plays a role as an antioxidant for patients with thalassemia who are at risk of iron overload due to multiple blood transfusion and high oxidative stress. [10]

What are the dietary restrictions for Thalassaemia? 

Thalassaemia minor: Patients do not have food avoidance unless they have iron deficiency in addition to thalassemia. If you have iron deficiency, avoid food that makes it more difficult for your body to absorb iron such as coffee, tea, milk, egg whites and soy protein. 

Thalassaemia major: Since the cause of anaemia in thalassemia patients is different from those who suffer from iron-deficiency anaemia, consumption of iron-rich food or iron supplements will not treat thalassemia. On the contrary, patients may have iron overload, either from the disease or from frequent blood transfusions.

Unless recommended by doctor, do not take other supplements that contain iron. Iron-rich foods such as oysters, red meat, liver, legumes, grain cereal fortified with iron, and green leafy vegetables should also be avoided. [1,5] 


  2. Bajwa H, Basit H. Thalassemia [Internet]. 2021 [cited 6 June 2022]. Available from: 
  3. Thalassemia Blood Disorder: Symptoms, Treatments, Tests & Recovery [Internet]. Cleveland Clinic. 2022 [cited 6 June 2022]. Available from:  
  4. Shafique F, Ali S, Almansouri T, Van Eeden F, Shafi N, Khalid M et al. Thalassemia, a human blood disorder. Brazilian Journal of Biology [Internet]. 2021 [cited 6 June 2022];83. Available from: 
  5. 5 Common Thalassaemia Questions | CFCH | Centre for Clinical Haematology [Internet]. Centre for Clinical Haematology. 2022 [cited 6 June 2022]. Available from: 
  6. Thalassemia [Internet]. 2022 [cited 6 June 2022]. Available from: 
  7. Frequently Asked Questions « Thalassemia [Internet]. 2022 [cited 6 June 2022]. Available from: 
  8. I have a thalassemia trait [Internet]. 2022 [cited 6 June 2022]. Available from: 
  9. Elalfy M, Saber M, Adly A, Ismail E, Tarif M, Ibrahim F et al. Role of Vitamin C As an Adjuvant Therapy with Different Iron Chelators in Young β-Thalassemia Major Patients: Safety and Efficacy in Relation to Tissue Iron Overload. Blood. 2014;124(21):4046-4046.
  10. T D, P T, P S. The benefits of vitamin C and vitamin E in children with beta-thalassemia with high oxidative stress [Internet]. PubMed. 2005 [cited 6 June 2022]. Available from: 

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